ACAA1 (acetyl-CoA acyltransferase 1)

2014-11-01 Affiliation

Identity

HGNC

ACAA1

LOCATION

3p22.2

LOCUSID

ALIAS

ACAA,PTHIO,THIO

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 30
MIM: 604054
HGNC: 82
Ensembl: ENSG00000060971

Variants:

dbSNP: 30
ClinVar: 30
TCGA: ENSG00000060971
COSMIC: ACAA1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000060971	ENST00000301810	P09110
ENSG00000060971	ENST00000301810	A0A140VJX0
ENSG00000060971	ENST00000333167	P09110
ENSG00000060971	ENST00000333167	A0A024R2M6
ENSG00000060971	ENST00000411549	B4DVF4
ENSG00000060971	ENST00000418880	F2Z2Q6
ENSG00000060971	ENST00000421218	H7C131
ENSG00000060971	ENST00000423611	F2Z2Q6
ENSG00000060971	ENST00000440176	F2Z3P7
ENSG00000060971	ENST00000447223	F2Z3P7
ENSG00000060971	ENST00000450296	C9JDE9
ENSG00000060971	ENST00000452171	H0Y4D4
ENSG00000060971	ENST00000625927	F2Z2Q6
ENSG00000060971	ENST00000627515	F2Z3P7

Expression (GTEx)

100

150

200

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Fatty acid degradation	KEGG	ko00071
Valine, leucine and isoleucine degradation	KEGG	ko00280
alpha-Linolenic acid metabolism	KEGG	ko00592
Biosynthesis of unsaturated fatty acids	KEGG	ko01040
PPAR signaling pathway	KEGG	ko03320
Fatty acid degradation	KEGG	hsa00071
Valine, leucine and isoleucine degradation	KEGG	hsa00280
alpha-Linolenic acid metabolism	KEGG	hsa00592
Biosynthesis of unsaturated fatty acids	KEGG	hsa01040
PPAR signaling pathway	KEGG	hsa03320
Peroxisome	KEGG	ko04146
Peroxisome	KEGG	hsa04146
Metabolic pathways	KEGG	hsa01100
beta-Oxidation	KEGG	hsa_M00087
beta-Oxidation	KEGG	M00087
Fatty acid metabolism	KEGG	hsa01212
Fatty acid metabolism	KEGG	ko01212
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Peroxisomal lipid metabolism	REACTOME	R-HSA-390918
Beta-oxidation of very long chain fatty acids	REACTOME	R-HSA-390247
alpha-linolenic (omega3) and linoleic (omega6) acid metabolism	REACTOME	R-HSA-2046104
alpha-linolenic acid (ALA) metabolism	REACTOME	R-HSA-2046106
Neutrophil degranulation	REACTOME	R-HSA-6798695

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
38154980	2024	[Clinical phenotypic and genotypic analysis of 5 pediatric patients with β-ketothiolase deficiency].	0
38154980	2024	[Clinical phenotypic and genotypic analysis of 5 pediatric patients with β-ketothiolase deficiency].	0
37129951	2023	Inhibition of ACAA1 Restrains Proliferation and Potentiates the Response to CDK4/6 Inhibitors in Triple-Negative Breast Cancer.	3
37129951	2023	Inhibition of ACAA1 Restrains Proliferation and Potentiates the Response to CDK4/6 Inhibitors in Triple-Negative Breast Cancer.	3
34465723	2021	A novel missense variant in ACAA1 contributes to early-onset Alzheimer's disease, impairs lysosomal function, and facilitates amyloid-β pathology and cognitive decline.	13
34465723	2021	A novel missense variant in ACAA1 contributes to early-onset Alzheimer's disease, impairs lysosomal function, and facilitates amyloid-β pathology and cognitive decline.	13
21048031	2011	Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.	5
22151743	2011	Effects of endotoxin exposure on childhood asthma risk are modified by a genetic polymorphism in ACAA1.	11
21048031	2011	Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.	5
22151743	2011	Effects of endotoxin exposure on childhood asthma risk are modified by a genetic polymorphism in ACAA1.	11
20406964	2010	Risk of meningioma and common variation in genes related to innate immunity.	21
20438785	2010	Polymorphisms in innate immunity genes and risk of childhood leukemia.	12
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	15
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	20
20406964	2010	Risk of meningioma and common variation in genes related to innate immunity.	21

Citation

Dessen P

ACAA1 (acetyl-CoA acyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60068/css/lib/teaching-explorer/deep-insight-explorer/